Biology:POU3F2
 Generic protein structure example |
POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.[1][2]
Function
N-Oct-3 is a protein belonging to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, which occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176), and the pituitary protein Pit1 (PIT1; MIM 173110).
Class III POU genes are expressed predominantly in the CNS. It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression.[2]
Disease linkage
The POU3F2 protein associates with the Bipolar disorder. It is involved in the neocortex development in mice, and is linked to a single nucleotide polymorphism, Rs1906252, that is associated with a cognitive phenotype: processing information speed.[3]
Chromosome 6q16.1 deletions resulting in loss of one copy of POU3F2 have been shown to cause a human syndrome of susceptibility to obesity and variable levels of developmental delay and Intellectual Disability.[4]
Interactions
POU3F2 has been shown to interact with PQBP1.[5]
See also
References
- ↑ "cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif". Nucleic Acids Research 21 (2): 253–8. January 1993. doi:10.1093/nar/21.2.253. PMID 8441633.
- ↑ 2.0 2.1 "Entrez Gene: POU3F2 POU domain, class 3, transcription factor 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5454.
- ↑ "Genome-wide association study reveals two new risk loci for bipolar disorder". Nature Communications 5: 3339. 2014. doi:10.1038/ncomms4339. PMID 24618891. Bibcode: 2014NatCo...5.3339M.
- ↑ "Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability". American Journal of Human Genetics 98 (2): 363–72. February 2016. doi:10.1016/j.ajhg.2015.12.014. PMID 26833329.
- ↑ "PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival". Human Molecular Genetics 8 (6): 977–87. June 1999. doi:10.1093/hmg/8.6.977. PMID 10332029.
Further reading
- "Structure and evolution of four POU domain genes expressed in mouse brain". Proceedings of the National Academy of Sciences of the United States of America 89 (8): 3280–4. April 1992. doi:10.1073/pnas.89.8.3280. PMID 1565620. Bibcode: 1992PNAS...89.3280H.
- "Astrocytes and glioblastoma cells express novel octamer-DNA binding proteins distinct from the ubiquitous Oct-1 and B cell type Oct-2 proteins". Nucleic Acids Research 18 (18): 5495–503. September 1990. doi:10.1093/nar/18.18.5495. PMID 2216722.
- "Expression of a large family of POU-domain regulatory genes in mammalian brain development". Nature 340 (6228): 35–41. July 1989. doi:10.1038/340035a0. PMID 2739723. Bibcode: 1989Natur.340...35H.
- "The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression". Oncogene 11 (10): 2157–64. November 1995. PMID 7478537.
- "Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16". Genomics 26 (2): 272–80. March 1995. doi:10.1016/0888-7543(95)80211-4. PMID 7601453.
- "The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells". Oncogene 11 (4): 691–700. August 1995. PMID 7651733.
- "N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3". Oncogene 14 (11): 1287–94. March 1997. doi:10.1038/sj.onc.1200953. PMID 9178889.
- "Structure and regulation of the human growth hormone-releasing hormone receptor gene". Molecular Endocrinology 12 (2): 233–47. February 1998. doi:10.1210/mend.12.2.0057. PMID 9482665.
- "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry 273 (26): 16050–7. June 1998. doi:10.1074/jbc.273.26.16050. PMID 9632656.
- "PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival". Human Molecular Genetics 8 (6): 977–87. June 1999. doi:10.1093/hmg/8.6.977. PMID 10332029.
- "Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors". European Journal of Biochemistry 267 (21): 6413–22. November 2000. doi:10.1046/j.1432-1327.2000.01737.x. PMID 11029584.
- "The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development". Genes & Development 17 (11): 1380–91. June 2003. doi:10.1101/gad.258203. PMID 12782656.
- "Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin". Molecular and Cellular Biology 24 (7): 2915–22. April 2004. doi:10.1128/MCB.24.7.2915-2922.2004. PMID 15024079.
- "The Brn-2 transcription factor links activated BRAF to melanoma proliferation". Molecular and Cellular Biology 24 (7): 2923–31. April 2004. doi:10.1128/MCB.24.7.2923-2931.2004. PMID 15024080.
- "Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells". Molecular Cancer 5 (1): 72. 2007. doi:10.1186/1476-4598-5-72. PMID 17163992.
External links
- POU3F2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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